| Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care E Mercuri, RS Finkel, F Muntoni, B Wirth, J Montes, M Main, ES Mazzone, ... Neuromuscular disorders 28 (2), 103-115, 2018 | 883 | 2018 |
| Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics RS Finkel, E Mercuri, OH Meyer, AK Simonds, MK Schroth, RJ Graham, ... Neuromuscular Disorders 28 (3), 197-207, 2018 | 607 | 2018 |
| Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology … A Ferreiro, S Quijano-Roy, C Pichereau, B Moghadaszadeh, N Goemans, ... The American Journal of Human Genetics 71 (4), 739-749, 2002 | 395 | 2002 |
| Diagnostic approach to the congenital muscular dystrophies CG Bönnemann, CH Wang, S Quijano-Roy, N Deconinck, E Bertini, ... Neuromuscular disorders 24 (4), 289-311, 2014 | 344 | 2014 |
| Approach to the diagnosis of congenital myopathies KN North, CH Wang, N Clarke, H Jungbluth, M Vainzof, JJ Dowling, ... Neuromuscular Disorders 24 (2), 97-116, 2014 | 324 | 2014 |
| De novo LMNA mutations cause a new form of congenital muscular dystrophy S Quijano‐Roy, B Mbieleu, CG Bönnemann, PY Jeannet, J Colomer, ... Annals of Neurology: Official Journal of the American Neurological …, 2008 | 306 | 2008 |
| Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy J Senderek, M Krieger, C Stendel, C Bergmann, M Moser, ... Nature genetics 37 (12), 1312-1314, 2005 | 289 | 2005 |
| Phenotypic spectrum associated with mutations in the fukutin‐related protein gene E Mercuri, M Brockington, V Straub, S Quijano‐Roy, Y Yuva, R Herrmann, ... Annals of Neurology: Official Journal of the American Neurological …, 2003 | 258 | 2003 |
| C‐terminal titin deletions cause a novel early‐onset myopathy with fatal cardiomyopathy V Carmignac, MAM Salih, S Quijano‐Roy, S Marchand, MM Al Rayess, ... Annals of neurology 61 (4), 340-351, 2007 | 257 | 2007 |
| Consensus statement on standard of care for congenital muscular dystrophies CH Wang, CG Bonnemann, A Rutkowski, T Sejersen, J Bellini, V Battista, ... Journal of child neurology 25 (12), 1559-1581, 2010 | 242 | 2010 |
| SEPN1: Associated with congenital fiber‐type disproportion and insulin resistance NF Clarke, W Kidson, S Quijano‐Roy, B Estournet, A Ferreiro, ... Annals of neurology 59 (3), 546-552, 2006 | 190 | 2006 |
| Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss M Baumann, C Giunta, B Krabichler, F Rüschendorf, N Zoppi, M Colombi, ... The American Journal of Human Genetics 90 (2), 201-216, 2012 | 165 | 2012 |
| Development and validation of a new risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies K Wahbi, R Ben Yaou, E Gandjbakhch, F Anselme, T Gossios, ... Circulation 140 (4), 293-302, 2019 | 160 | 2019 |
| Phenotype and genotype in 101 males with X-linked creatine transporter deficiency JM van de Kamp, OT Betsalel, S Mercimek-Mahmutoglu, L Abulhoul, ... Journal of medical genetics 50 (7), 463-472, 2013 | 151 | 2013 |
| Whole body muscle MRI protocol: pattern recognition in early onset NM disorders S Quijano-Roy, D Avila-Smirnow, RY Carlier, ... Neuromuscular Disorders 22, S68-S84, 2012 | 147 | 2012 |
| Early onset collagen VI myopathies: Genetic and clinical correlations L Brinas, P Richard, S Quijano‐Roy, C Gartioux, C Ledeuil, E Lacène, ... Annals of neurology 68 (4), 511-520, 2010 | 145 | 2010 |
| Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors AT Bertrand, S Ziaei, C Ehret, H Duchemin, K Mamchaoui, A Bigot, ... Journal of cell science 127 (13), 2873-2884, 2014 | 138 | 2014 |
| Emery–Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies G Bonne, S Quijano-Roy Handbook of clinical neurology 113, 1367-1376, 2013 | 135 | 2013 |
| ISPD produces CDP-ribitol used by FKTN and FKRP to transfer ribitol phosphate onto α-dystroglycan I Gerin, B Ury, I Breloy, C Bouchet-Seraphin, J Bolsée, M Halbout, J Graff, ... Nature communications 7 (1), 11534, 2016 | 131 | 2016 |
| ColVI myopathies: where do we stand, where do we go? V Allamand, L Briñas, P Richard, T Stojkovic, S Quijano-Roy, G Bonne Skeletal muscle 1, 1-14, 2011 | 124 | 2011 |
Pascale GuicheneySorbonne UniversityVerified email at sorbonne-universite.fr
